Skeletal dysplasia
Gene: GSC
Not listed in SD nosology paper but phenotype is short stature with skeletal abnormalities. At least 3 cases.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: GSC; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM. At least three variants reportedCreated: 28 Jul 2016, 1:39 p.m.
Tier 1Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471 for gene: GSC
Source NHS GMS was added to GSC. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for GSC were set to Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471
Mode of inheritance for GSC was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
GSC was added to Unexplained skeletal dysplasiapanel. Sources: Expert list
GSC was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
GSC was added to Unexplained skeletal dysplasiapanel. Sources:
GSC was created by sleigh